المؤلفون: Fleming, Andrew, Galey, Miranda, Briggs, Lizi, Edwards, Matthew, Hogg, Claire, John, Shibu, Wilkinson, Sam, Quinn, Ellie, Rai, Ranjit, Burgoyne, Tom, Rogers, Andy, Patel, Mitali P., Griffin, Paul, Muller, Steven, Carr, Siobhan B., Loebinger, Michael R., Lucas, Jane S., Shah, Anand, Jose, Ricardo, Mitchison, Hannah M., Shoemark, Amelia, Miller, Danny E., Morris-Rosendahl, Deborah J.

المصدر: Fleming , A , Galey , M , Briggs , L , Edwards , M , Hogg , C , John , S , Wilkinson , S , Quinn , E , Rai , R , Burgoyne , T , Rogers , A , Patel , M P , Griffin , P , Muller , S , Carr , S B , Loebinger , M R , Lucas , J S , Shah , A , Jose , R , Mitchison , H M , Shoemark , A , Miller , D E & Morris-Rosendahl , D J 2024 ....

وصف الملف: application/pdf

الاتاحة: https://discovery.dundee.ac.uk/en/publications/e4e2e454-4b4c-4d45-8ff0-947737faa065
https://doi.org/10.1038/s41431-024-01599-7
https://discovery.dundee.ac.uk/ws/files/131120070/s41431-024-01599-7.pdf

المؤلفون: Hayesmoore, Jesse B., Bhuiyan, Zahurul A., Coviello, Domenico A., du Sart, Desirée, Edwards, Matthew, Iascone, Maria, Morris-Rosendahl, Deborah J., Sheils, Katie, van Slegtenhorst, Marjon, Thomson, Kate L.

المصدر: Hayesmoore , J B , Bhuiyan , Z A , Coviello , D A , du Sart , D , Edwards , M , Iascone , M , Morris-Rosendahl , D J , Sheils , K , van Slegtenhorst , M & Thomson , K L 2023 , ' EMQN : Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias ' , European Journal of Human Genetics , vol. 31 , no. 9 , pp. 1003-1009 . https://doi.org/10.1038/s41431-023-01421-w

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/f5b007f3-5439-498a-89e8-550d5e5cb3e1
https://doi.org/10.1038/s41431-023-01421-w
https://pure.eur.nl/ws/files/98655806/EMQN_Recommendations_for_genetic_testing_in_inherited_cardiomyopathies_and_arrhythmias.pdf
http://www.scopus.com/inward/record.url?scp=85164734087&partnerID=8YFLogxK

المؤلفون: Mani, Rahma, Gomes, Mafalda, González, Adrián, Hogg, Claire, Morris-Rosendahl, Deborah J., Maitre, Bernard, Fassad, Mahmoud R., Goutaki, Myrona, Lucas, Jane S., Mitchison, Hannah M, Legendre, Marie, Crowley, Suzanne

المساهمون: Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Great Ormond Street Institute of Child Health (UCL), University College of London London (UCL), Royal Brompton Hospital, Imperial College London, Centre Hospitalier Intercommunal de Créteil (CHIC), Bern University Hospital Berne (Inselspital), University of Southampton, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: 7ème journée annuelle de la filière de santé des maladies respiratoires rares
https://inserm.hal.science/inserm-04121677
7ème journée annuelle de la filière de santé des maladies respiratoires rares, Sep 2022, Paris, France

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract

جغرافية الموضوع: Paris, France

Relation: inserm-04121677; https://inserm.hal.science/inserm-04121677; https://inserm.hal.science/inserm-04121677/document; https://inserm.hal.science/inserm-04121677/file/1.CiliaVar%20WBC%20poster.pdf

الاتاحة: https://inserm.hal.science/inserm-04121677
https://inserm.hal.science/inserm-04121677/document
https://inserm.hal.science/inserm-04121677/file/1.CiliaVar%20WBC%20poster.pdf

المؤلفون: Fisher, Chloe L., Dillon, Richard, Anguita Mandly, Eduardo Luis, Morris Rosendahl, Deborah J., Awan, Ali R.

مصطلحات الفهرس: 616.15, Secuenciación, Leucemia aguda mieloide, Hematología, 3207.08 Hematología, 2409 Genética, 32 Ciencias Médicas, journal article, VoR

URL: https://hdl.handle.net/20.500.14352/95475
https://www.clinicalkey.es/#!/browse/toc/1-s2.0-S1525157821X00232/null/journalIssue

المؤلفون: Fisher, Chloe L., Dillon, Richard, Anguita Mandly, Eduardo Luis, Morris Rosendahl, Deborah J., Awan, Ali R.

مصطلحات موضوعية: 616.15, Secuenciación, Leucemia aguda mieloide, Hematología, 3207.08 Hematología, 2409 Genética, 32 Ciencias Médicas

وصف الملف: application/pdf

Relation: https://hdl.handle.net/20.500.14352/95475; Fisher CL, Dillon R, Anguita E, Morris-Rosendahl DJ, Awan AR. A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer. J Mol Diagn. 2022 Dec;24(12):1264-1278.; https://www.clinicalkey.es/#!/browse/toc/1-s2.0-S1525157821X00232/null/journalIssue

الاتاحة: https://hdl.handle.net/20.500.14352/95475
https://doi.org/10.1016/j.jmoldx.2022.09.006
https://www.clinicalkey.es/#!/browse/toc/1-s2.0-S1525157821X00232/null/journalIssue

المؤلفون: Fassad, Mahmoud R., Patel, Mitali P., Shoemark, Amelia, Cullup, Thomas, Hayward, Jane, Dixon, Mellisa, Rogers, Andrew V., Ollosson, Sarah, Jackson, Claire, Goggin, Patricia, Hirst, Robert A., Rutman, Andrew, Thompson, James, Jenkins, Lucy, Aurora, Paul, Moya, Eduardo, Chetcuti, Philip, O'Callaghan, Chris, Morris-Rosendahl, Deborah J., Watson, Christopher M., Wilson, Robert, Carr, Siobhan, Walker, Woolf, Pitno, Andreia, Lopes, Susana, Morsy, Heba, Shoman, Walaa, Pereira, Luisa, Constant, Carolina, Loebinger, Michael R., Chung, Eddie M. K., Kenia, Priti, Rumman, Nisreen, Fasseeh, Nader, Lucas, Jane S., Hogg, Claire, Mitchison, Hannah M.

المصدر: Fassad , M R , Patel , M P , Shoemark , A , Cullup , T , Hayward , J , Dixon , M , Rogers , A V , Ollosson , S , Jackson , C , Goggin , P , Hirst , R A , Rutman , A , Thompson , J , Jenkins , L , Aurora , P , Moya , E , Chetcuti , P , O'Callaghan , C , Morris-Rosendahl , D J , Watson , C M , Wilson , R , Carr , S , Walker , W , Pitno ....

مصطلحات موضوعية: bronchiectasis, cilia, mutation spectrum, population, primary ciliary dyskinesia, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://discovery.dundee.ac.uk/en/publications/8522aed6-f7f5-4ee5-8980-e80a875fed21

الاتاحة: https://discovery.dundee.ac.uk/en/publications/8522aed6-f7f5-4ee5-8980-e80a875fed21
https://doi.org/10.1136/jmedgenet-2019-106501
https://discovery.dundee.ac.uk/ws/files/59242203/Fassad_et_al_corrections_cleaned.pdf
https://discovery.dundee.ac.uk/ws/files/41471792/Supplementary_Materials_and_Methods_corrections_cleaned.docx
https://discovery.dundee.ac.uk/ws/files/41471794/Figure_1_21.10.19.pdf
https://discovery.dundee.ac.uk/ws/files/41471796/Figure_2_21.10.19.pdf
https://discovery.dundee.ac.uk/ws/files/41471798/Figure_3_21.10.19.pdf
http://www.scopus.com/inward/record.url?scp=85077217284&partnerID=8YFLogxK

المؤلفون: Roses-Noguer, Ferran, Martinez-Villar, Maria, Honti, Frank, Edwards, Matthew, Till, Jan, Morris-Rosendahl, Deborah J., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Long QT syndrome, Paediatrics, Silver Russell syndrome, Syncope

وصف الملف: application/pdf

Relation: HeartRhythm case reports; Vol. 6 (june 2020), p. 591-595; https://ddd.uab.cat/record/232730; urn:10.1016/j.hrcr.2020.06.003; urn:oai:ddd.uab.cat:232730; urn:pmcid:PMC7498520; urn:pmc-uid:7498520; urn:pmid:32983873; urn:articleid:22140271v6p591; urn:oai:pubmedcentral.nih.gov:7498520

الاتاحة: https://ddd.uab.cat/record/232730

المؤلفون: Morris-Rosendahl, Deborah J., Crocq, Marc-Antoine

المصدر: Dialogues in Clinical Neuroscience ; volume 22, issue 1, page 65-72 ; ISSN 1958-5969

الاتاحة: http://dx.doi.org/10.31887/dcns.2020.22.1/macrocq
https://www.tandfonline.com/doi/pdf/10.31887/DCNS.2020.22.1/macrocq

المؤلفون: Jain, Kinshuk, McCarley, Sarah C., Mukhtar, Ghazel, Ferlin, Anna, Fleming, Andrew, Morris-Rosendahl, Deborah J., Shovlin, Claire L.

المصدر: Journal of Clinical Medicine; Jan2024, Vol. 13 Issue 1, p250, 19p

مصطلحات موضوعية: MYOCARDIAL infarction, HEREDITARY hemorrhagic telangiectasia, TELANGIECTASIA, GENETIC variation, MISSENSE mutation, GENETIC testing

المؤلفون: Wallmeier, Julia, Frank, Diana, Shoemark, Amelia, Nöthe-Menchen, Tabea, Cindric, Sandra, Olbrich, Heike, Loges, Niki T., Aprea, Isabella, Dougherty, Gerard W., Pennekamp, Petra, Kaiser, Thomas, Mitchison, Hannah M., Hogg, Claire, Carr, Siobhán B., Zariwala, Maimoona A., Ferkol, Thomas, Leigh, Margaret W., Davis, Stephanie D., Atkinson, Jeffrey, Dutcher, Susan K., Knowles, Michael R., Thiele, Holger, Altmüller, Janine, Krenz, Henrike, Wöste, Marius, Brentrup, Angela, Ahrens, Frank, Vogelberg, Christian, Morris-Rosendahl, Deborah J., Omran, Heymut

المصدر: Wallmeier , J , Frank , D , Shoemark , A , Nöthe-Menchen , T , Cindric , S , Olbrich , H , Loges , N T , Aprea , I , Dougherty , G W , Pennekamp , P , Kaiser , T , Mitchison , H M , Hogg , C , Carr , S B , Zariwala , M A , Ferkol , T , Leigh , M W , Davis , S D , Atkinson , J , Dutcher , S K , Knowles , M R , Thiele , H , Altmüller , ....

مصطلحات موضوعية: FOXJ1, cilia, ciliogenesis, ependyma, hydrocephalus, lung disease, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

الاتاحة: https://discovery.dundee.ac.uk/en/publications/1d3566b2-7c66-4d6c-8139-f3cbe5b3fb91
https://doi.org/10.1016/j.ajhg.2019.09.022
http://www.scopus.com/inward/record.url?scp=85074301064&partnerID=8YFLogxK

المؤلفون: Hoang, Long T., Domingo‐Sabugo, Clara, Starren, Elizabeth S., Willis‐Owen, Saffron A.G., Morris‐Rosendahl, Deborah J., Nicholson, Andrew G., Cookson, William O. C. M., Moffatt, Miriam F.

المصدر: Molecular Oncology ; volume 13, issue 11, page 2406-2421 ; ISSN 1574-7891 1878-0261

الاتاحة: http://dx.doi.org/10.1002/1878-0261.12568
https://onlinelibrary.wiley.com/doi/pdf/10.1002/1878-0261.12568
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/1878-0261.12568
https://febs.onlinelibrary.wiley.com/doi/pdf/10.1002/1878-0261.12568

المؤلفون: Morris‐Rosendahl, Deborah J.

المصدر: Pediatric Pulmonology ; volume 58, issue 9, page 2437-2438 ; ISSN 8755-6863 1099-0496

الاتاحة: http://dx.doi.org/10.1002/ppul.26529
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ppul.26529

المؤلفون: Hoehe, Margret R., Morris-Rosendahl, Deborah J.

المصدر: Dialogues in Clinical Neuroscience ; volume 20, issue 3, page 169-177 ; ISSN 1958-5969

الاتاحة: http://dx.doi.org/10.31887/dcns.2018.20.3/mhoehe
https://www.tandfonline.com/doi/pdf/10.31887/DCNS.2018.20.3/mhoehe

المؤلفون: Whiffin, Nicola, Walsh, Roddy, Govind, Risha, Edwards, Matthew, Ahmad, Mian, Zhang, Xiaolei, Tayal, Upasana, Buchan, Rachel, Midwinter, William, Wilk, Alicja E., Najgebauer, Hanna, Francis, Catherine, Wilkinson, Sam, Monk, Thomas, Brett, Laura, O’Regan, Declan P., Prasad, Sanjay K., Morris-Rosendahl, Deborah J., Barton, Paul J.R., Edwards, Elizabeth, Ware, James S., Cook, Stuart A.

المصدر: Genetics in Medicine ; volume 20, issue 10, page 1246-1254 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2017.258
http://www.nature.com/articles/gim2017258
http://www.nature.com/articles/gim2017258.pdf
https://api.elsevier.com/content/article/PII:S1098360021046815?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021046815?httpAccept=text/plain
http://www.nature.com/doifinder/10.1038/gim.2017.258

المؤلفون: Fleming, Andrew, Galey, Miranda, Briggs, Lizi, Edwards, Matthew, Hogg, Claire, John, Shibu, Wilkinson, Sam, Quinn, Ellie, Rai, Ranjit, Burgoyne, Tom, Rogers, Andy, Patel, Mitali P., Griffin, Paul, Muller, Steven, Carr, Siobhan B., Loebinger, Michael R., Lucas, Jane S., Shah, Anand, Jose, Ricardo, Mitchison, Hannah M., Shoemark, Amelia, Miller, Danny E., Morris-Rosendahl, Deborah J.

المصدر: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-12, 12p

المؤلفون: Gleeson, Joseph G., Morris Rosendahl, Deborah J.

المصدر: Epstein's Inborn Errors of Development ; page 1217-1222

الاتاحة: https://doi.org/10.1093/med/9780199934522.003.0185

المؤلفون: Borck, Guntram, Hög, Friederike, DENTICI, MARIA LISA, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, RADICIONI, Antonio, SCHWARZENBERG, Tito Livio, Mandriani, Barbara, Fischetto, Rita, Morris Rosendahl, Deborah J., Altmüller, Janine, Reymond, Alexandre, Nürnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nicholas, Cramer, Patrick, Kubisch, Christian

المساهمون: Borck, Guntram, Hög, Friederike, Dentici, MARIA LISA, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara, Fischetto, Rita, Morris Rosendahl, Deborah J., Altmüller, Janine, Reymond, Alexandre, Nürnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nichola, Cramer, Patrick, Kubisch, Christian

مصطلحات موضوعية: Abnormalities, Multiple, Adolescent, Amino Acid Sequence, Amino Acid Substitution, Animal, Brain, Cell Proliferation, Child, Preschool, Exome, Facie, Female, High-Throughput Nucleotide Sequencing, Human, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male, Models, Molecular, Molecular Sequence Data, Pedigree, Phenotype, Protein Conformation, Protein Isoform, RNA Polymerase III, Sibling, Syndrome, TATA-Binding Protein Associated Factor

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/25561519; info:eu-repo/semantics/altIdentifier/wos/WOS:000348974500001; volume:25; issue:2; firstpage:155; lastpage:166; numberofpages:12; journal:GENOME RESEARCH; http://hdl.handle.net/11573/908282; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84922357897; http://genome.cshlp.org/content/25/2/155.full.pdf+html

الاتاحة: http://hdl.handle.net/11573/908282
https://doi.org/10.1101/gr.176925.114
http://genome.cshlp.org/content/25/2/155.full.pdf+html

المؤلفون: Hayesmoore, Jesse B., Bhuiyan, Zahurul A., Coviello, Domenico A., du Sart, Desirée, Edwards, Matthew, Iascone, Maria, Morris-Rosendahl, Deborah J., Sheils, Katie, van Slegtenhorst, Marjon, Thomson, Kate L.

المصدر: European Journal of Human Genetics: EJHG; September 2023, Vol. 31 Issue: 9 p1003-1009, 7p

المؤلفون: Daud, Shakeela, Kakar, Naseebullah, Goebel, Ingrid, Hashmi, Abu Saeed, Yaqub, Tahir, Nürnberg, Gudrun, Nürnberg, Peter, Morris-Rosendahl, Deborah J., Wasim, Muhammad, Volk, Alexander E., Kubisch, Christian, Ahmad, Jamil, Borck, Guntram

المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ; volume 17, issue 3-4, page 260-265 ; ISSN 2167-8421 2167-9223

الاتاحة: http://dx.doi.org/10.3109/21678421.2015.1125501
https://www.tandfonline.com/doi/pdf/10.3109/21678421.2015.1125501

المؤلفون: Erdélyi, László S., Alexander Mann, W., Morris-Rosendahl, Deborah J., Groß, Ute, Nagel, Mato, Várnai, Péter, Balla, András, Hunyady, László

المصدر: Kidney International ; volume 88, issue 5, page 1070-1078 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1038/ki.2015.181
https://api.elsevier.com/content/article/PII:S0085253815609887?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0085253815609887?httpAccept=text/plain